Figure 2.

The proband (marked by arrow and confirmed using Sanger sequencing as homozygote for novel mutation) is a boy with cutaneous photosensitivity, severe growth retardation and intellectual disability. Parents have consanguineous marriage, and two of his uncles from mother side had similar phenotype and died around 16 and 17 years. The proband sister is a known case of Down syndrome. By using Sanger sequencing, parents and grandparents from mother side were confirmed as heterozygous carriers of the identified ERCC8 gene mutation and are marked with solid circles with corresponding sequencing chromatograms. Het, heterozygote; Hom, homozygote.